Wissinger, B.
Bernd Wissinger researcher
Wissinger, Bernd
VIAF ID: 57555714 (Personal)
Permalink: http://viaf.org/viaf/57555714
Preferred Forms
- 100 0 _ ‡a Bernd Wissinger ‡c researcher
- 100 1 _ ‡a Wissinger, B.
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- 100 1 _ ‡a Wissinger, B.
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- 100 1 _ ‡a Wissinger, B.
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- 100 1 _ ‡a Wissinger, Bernd
4xx's: Alternate Name Forms (2)
5xx's: Related Names (3)
- 510 2 _ ‡a Forschungsinstitut für Augenheilkunde ‡4 affi ‡4 https://d-nb.info/standards/elementset/gnd#affiliation ‡e Affiliation
- 551 _ _ ‡a Tübingen ‡4 ortw ‡4 https://d-nb.info/standards/elementset/gnd#placeOfActivity
- 510 2 _ ‡a Universitätsklinikum Tübingen ‡4 affi ‡4 https://d-nb.info/standards/elementset/gnd#affiliation ‡e Affiliation
Works
Title | Sources |
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A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report. | |
Activating mutation of the renal epithelial chloride channel ClC-Kb, predisposing to hypertension | |
Bedeutung von Atf6 für die Zebrafischretina Generierung und Charakterisierung eines atf6-/- - Zebrafischmodells | |
Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials | |
Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster. | |
Clinical and genetic features of Hungarian achromatopsia patients | |
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia | |
Development of a genotyping microarray for Usher syndrome | |
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy | |
Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy | |
GDF-15: a novel serum marker for metastases in uveal melanoma patients. | |
Genetics in ophthalmology, 2003: | |
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy | |
Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate | |
Identification of genes that are linked with optineurin expression using a combined RNAi--microarray approach | |
Identifizierung chemischer und pharmakologischer Chaperone zur Korrektur trafficking-defizienter Zapfen CNG-Kanäle | |
In vivo analysis of cone survival in mice | |
Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina. | |
Mapping of transcription start sites of human retina expressed genes | |
Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population | |
Molecular basis of an inherited form of incomplete achromatopsia. | |
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration | |
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome | |
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing | |
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy | |
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy | |
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy | |
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia | |
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia | |
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy | |
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin | |
Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family | |
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy. | |
Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon | |
OPA1-assoziierte Behr Syndrom Ursächliche Mutationen, Behandlungsstrategien und ein Mausmodell | |
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes | |
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease | |
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations | |
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier | |
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy | |
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. | |
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle | |
Rod and cone function in patients with KCNV2 retinopathy | |
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations | |
Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy. | |
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia | |
Structural and functional phenotyping in the cone-specific photoreceptor function loss 1 (cpfl1) mouse mutant - a model of cone dystrophies | |
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina | |
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype | |
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority | |
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. | |
Variations in the WDR36 gene in German patients with normal tension glaucoma | |
Von der Urschrift zur Reife Studien zum Splicing und Editing mitochondrialer Transkripte in Höheren Pflanzen | |
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness | |
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15 |